Autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) is a slowly progressive peripheral neuropathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties. Most affected individuals also have upper limb involvement with weakness and atrophy of the hand muscles. Foot deformities are often present. Some patients may have mild sensory abnormalities or pyramidal signs. Electrophysiologic studies are consistent with a length-dependent axonal motor neuropathy (summary by Jacquier et al., 2023).
For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). [from OMIM]
Also known as: CAT5, CLK-1, CLK1, COQ10D8, HMNR9, COQ7
Summary: coenzyme Q7, hydroxylase
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